ClinVar Miner

List of variants reported as uncertain significance for Tay-Sachs disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
Download table as spreadsheet
HGVS dbSNP
NC_000015.9:g.(?_72640007)_(72643595_?)dup
NM_000520.5(HEXA):c.-136G>A rs561320483
NM_000520.5(HEXA):c.-141G>A rs886051462
NM_000520.5(HEXA):c.-167G>A rs77707876
NM_000520.5(HEXA):c.-181T>C rs886051463
NM_000520.5(HEXA):c.-207A>G rs886051464
NM_000520.5(HEXA):c.-59G>A rs147174351
NM_000520.5(HEXA):c.1073C>T (p.Thr358Met)
NM_000520.5(HEXA):c.134A>C (p.Gln45Pro) rs144089645
NM_000520.5(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.5(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.5(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.*12C>T rs532797279
NM_000520.6(HEXA):c.*200T>C rs886051461
NM_000520.6(HEXA):c.*355C>G rs188399769
NM_000520.6(HEXA):c.*436C>T rs112626309
NM_000520.6(HEXA):c.*575G>A rs76075374
NM_000520.6(HEXA):c.*76G>A rs558918292
NM_000520.6(HEXA):c.-1dup (p.Met1fs) rs1555475553
NM_000520.6(HEXA):c.-4G>A rs766510036
NM_000520.6(HEXA):c.-7_1del (p.Met1fs) rs759154405
NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe) rs1555472604
NM_000520.6(HEXA):c.1008G>C (p.Gln336His) rs1555472602
NM_000520.6(HEXA):c.101A>G (p.Asp34Gly) rs1555475512
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg) rs1417593132
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val)
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val) rs771447407
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) rs759157781
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg) rs764291005
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser) rs778878211
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del) rs1467732394
NM_000520.6(HEXA):c.1214_1219del (p.403_404EL[1]) rs1555472429
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val) rs151251788
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp) rs762494949
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met) rs749368995
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro) rs752223090
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.1375A>G (p.Met459Val) rs547192168
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208
NM_000520.6(HEXA):c.1421+14G>C rs201497629
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly) rs761736583
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu)
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.1571del (p.Gln524fs) rs1555472158
NM_000520.6(HEXA):c.1578del (p.Phe526fs) rs1555472157
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe)
NM_000520.6(HEXA):c.211C>G (p.Leu71Val) rs775000497
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn) rs1555475468
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln) rs766966378
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys) rs756740656
NM_000520.6(HEXA):c.286G>A (p.Val96Ile) rs868358306
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser) rs1217876329
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys)
NM_000520.6(HEXA):c.346+13C>T rs200871198
NM_000520.6(HEXA):c.346+2dup rs1430416918
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln) rs917904407
NM_000520.6(HEXA):c.38C>T (p.Ala13Val) rs145666272
NM_000520.6(HEXA):c.428G>T (p.Ser143Ile) rs1273494297
NM_000520.6(HEXA):c.446_448CTG[1] (p.Ala150del) rs1555473140
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.6(HEXA):c.535C>T (p.His179Tyr) rs781493030
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu) rs371133961
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser)
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.598G>A (p.Val200Met) rs1800429
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) rs1002712424
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr) rs756218457
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly)
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn)
NM_000520.6(HEXA):c.673-13T>C rs75211071
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.749G>T (p.Gly250Val) rs121907959
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000520.6(HEXA):c.941A>T (p.Asp314Val) rs1555472696

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.